| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1553846331 | 0.925 | 0.120 | 4 | 3473504 | missense variant | C/T | snv | 4 | |||
| rs606231128 | 0.882 | 0.120 | 4 | 3493106 | frameshift variant | -/TGCC | delins | 4 | |||
| rs756015202 | 0.925 | 0.120 | 4 | 3493047 | missense variant | C/T | snv | 5.5E-06 | 4 | ||
| rs1560224831 | 0.925 | 0.120 | 4 | 3489765 | frameshift variant | -/TCTC | delins | 2 | |||
| rs606231129 | 0.925 | 0.120 | 4 | 3493243 | frameshift variant | C/-;CC | delins | 2 | |||
| rs606231131 | 0.925 | 0.120 | 4 | 3493316 | frameshift variant | -/CTGG | delins | 2 | |||
| rs606231133 | 0.925 | 0.120 | 4 | 3493359 | frameshift variant | C/-;CC | delins | 2 | |||
| rs761899995 | 0.925 | 0.120 | 4 | 3493119 | frameshift variant | -/G | delins | 2 | |||
| rs794727884 | 0.925 | 0.120 | 4 | 3492938 | frameshift variant | CCC/-;CC;CCCC | delins | 2 | |||
| rs768892432 | 0.925 | 0.120 | 4 | 3476524 | missense variant | G/A | snv | 8.0E-06 | 2 | ||
| rs770987150 | 0.925 | 0.120 | 4 | 3476447 | missense variant | C/T | snv | 2.4E-05 | 2.8E-05 | 2 | |
| rs118203994 | 1.000 | 0.080 | 4 | 3485545 | stop gained | G/A;C | snv | 4.1E-06; 1.2E-05 | 1 | ||
| rs118203995 | 1.000 | 0.080 | 4 | 3485607 | stop gained | C/G;T | snv | 4.1E-06; 8.2E-06 | 1 | ||
| rs1349476281 | 1.000 | 0.080 | 4 | 3473637 | splice donor variant | G/T | snv | 1.1E-05 | 1 | ||
| rs1553847993 | 1.000 | 0.080 | 4 | 3485618 | protein altering variant | CCCCACCAAGGGCC/GGACGGTTCTA | delins | 1 | |||
| rs1553850100 | 1.000 | 0.080 | 4 | 3493006 | frameshift variant | -/GCCACTGGCAGCCACTCCT | delins | 1 | |||
| rs606231130 | 1.000 | 0.080 | 4 | 3485552 | frameshift variant | TCCT/- | delins | 1 | |||
| rs606231132 | 1.000 | 0.080 | 4 | 3493125 | frameshift variant | C/-;CC | delins | 1 | |||
| rs6811423 | 1.000 | 0.080 | 4 | 3492873 | missense variant | A/G | snv | 0.23 | 0.18 | 1 | |
| rs763233743 | 1.000 | 0.080 | 4 | 3463382 | stop gained | G/A;C;T | snv | 3.2E-05; 8.0E-06 | 1 | ||
| rs797045040 | 1.000 | 0.080 | 4 | 3493461 | frameshift variant | -/TCCAGTCTGT | delins | 1 | |||
| rs797045528 | 1.000 | 0.080 | 4 | 3485602 | frameshift variant | T/- | del | 1.2E-05 | 1 | ||
| rs863223277 | 1.000 | 0.080 | 4 | 3463505 | splice acceptor variant | G/T | snv | 1 | |||
| rs940346413 | 1.000 | 0.080 | 4 | 3473535 | missense variant | C/G;T | snv | 4.0E-06; 1.2E-05 | 1 | ||
| rs1286619522 | 1.000 | 0.080 | 4 | 3476522 | missense variant | G/A | snv | 4.0E-06 | 1 |